Association between <i>SOD1, CAT, GSHPX1</i> polymorphisms and the risk of inflammatory bowel disease in the Polish population

Mrowicka, Małgorzata; Mrowicki, Jerzy; Mik, Michał; Wojtczak, Radosław; Dziki, Łukasz; Dziki, Adam; Majsterek, Ireneusz

doi:10.18632/oncotarget.22675

Cited by 16 publications

(6 citation statements)

References 25 publications

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“…In the literature, there are reports about the role of SOD isoenzymes as therapeutic factors in inflammation [ 5 , 6 , 7 , 10 ]. It has been shown that there is an association between the single-nucleotide polymorphism (SNP) in the genes of SOD isoenzymes (especially SNP rs2070424 in the SOD1 gene) and inflammation and Cu concentration as a regulator of their activity [ 15 , 16 ]. However, the levels of individual SOD isoenzymes in patients with acute pancreatitis (AP) have not been studied so far.…”

Section: Introductionmentioning

confidence: 99%

Changes in the Activity and Concentration of Superoxide Dismutase Isoenzymes (Cu/Zn SOD, MnSOD) in the Blood of Healthy Subjects and Patients with Acute Pancreatitis

et al. 2020

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This study was aimed at evaluating the changes in the concentration and activity of all superoxide dismutase isoenzymes (SOD1, SOD2, SOD3) in the blood of patients with acute pancreatitis (AP) and healthy subjects, taking into account the extracellular (plasma) and intracellular (erythrocyte lysate) compartment. The relationships between the activity/concentration of SODs, metal concentration and the markers of inflammation were evaluated. To assess the pro/antioxidative imbalance, the malonyldialdehyde (MDA) concentration and the value of total antioxidant capacity (TAC) were measured. The impact of single-nucleotide polymorphism (SNP) in the SOD1 gene (rs2070424) on the activity/concentration of SOD1 as the main isoenzyme of the SOD family was also analyzed in this study. The SOD2 activity in erythrocytes was increased compared to plasma: 10-fold in the AP patient group and 5-fold in healthy subjects. The plasma of AP patients showed an increased SOD1 concentration and decreased SOD2 and SOD3 concentrations compared to healthy subjects. The Cu/Zn SOD (SOD1 + SOD3) concentration in plasma of AP patients was elevated compared to healthy subjects, but changes in plasma Cu/Zn SOD (SOD1 + SOD3) activity in the examined groups were not observed. An influence of SNP rs2070424 in the SOD1 gene on the total activity of SOD in AP patients (with AG genotype), accompanied by an increased IL-6 concentration, was observed. In oxidative stress conditions induced by inflammation, the participation of individual forms of plasma SOD isoenzymes in total antioxidative activity of SOD changed. A significant increase in the intracellular SOD1 concentration in plasma of AP patients proves the important role of this isoenzyme in the neutralization of oxidative stress induced by impaired Cu and Zn homeostasis. The presence of increased concentration of SOD2 in erythrocytes of healthy subjects and AP patients confirms the important function of this isoenzyme in the antioxidative defense.

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Section: Introductionmentioning

confidence: 99%

Changes in the Activity and Concentration of Superoxide Dismutase Isoenzymes (Cu/Zn SOD, MnSOD) in the Blood of Healthy Subjects and Patients with Acute Pancreatitis

et al. 2020

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“…No CAT gene polymorphism was seen in 200 patients of enteropathic arthritis or patients of inflammatory bowel disease (IBD )in Poland 24 . A study conducted in Iran concluded that CT genotype of CATC262T polymorphism increased the risk of IBD.…”

Section: Discussionmentioning

confidence: 99%

Association of C-262 polymorphism in catalase gene with Rheumatoid Arthritis

et al. 2022

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Objectives: To evaluate the association of C-262 polymorphism in Catalase gene (CAT) with Rheumatoid Arthritis. Method: The comparative cross-sectional study was conducted at the Department of Biochemistry and Molecular Biology, Army Medical College, Rawalpindi, in collaboration with the Rheumatology Department, Pak Emirates Military Hospital, Rawalpindi, Pakistan, from January to December 2020, and comprised Deoxyribonucleic acid extraction of samples. Samples in group I belonged to diagnosed rheumatoid arthritis patients of either gender aged 30-60 years who were on disease-modifying anti-rheumatic drugs. Group II had an equal number of healthy controls. The promoter region of the CAT gene having the polymorphic segment was amplified through polymerase chain reaction, and its products were then subjected to restriction fragment length polymorphism for the analysis of polymorphic region of the CAT gene. Genotypic frequency equilibrium and the association of polymorphism with rheumatoid arthritis was checked. Also, association between fasting lipid profile and haemoglobin was assessed. Data was analysed using SPSSS 22. Results: Of the 60 samples, 30(50%) belonged to each of the two groups. The mean age was 44.90±10.50 years (range: 30-60 years). Overall, there were 34(56.7%) males and 26(43.3%) were females. Two alleles and three genotypes of the polymorphism was detected. The frequency of CC genotype was higher in group I 23(76.6%), but no association of any of the genotype of polymorphism was found significant (p 0.05). Haemoglobin and lipid profile levels were significantly different in the two groups (p 0.05). Conclusion: There was no significant association found between C-262 polymorphism in CAT gene and rheumatoid arthritis. Key Words: Rheumatoid arthritis, CAT gene, C-262T polymorphism, Restriction fragment length polymorphism.

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“…Of note, we found a significant difference in 4 out of the 14 CAT-gene SNPs evaluated (rs7943316, rs475043, rs769217, and rs525938) between the CD patients and the control group (Table 3). Some of these four polymorphisms have been previously implicated with the pathogenesis of inflammatory bowel disease (IBD) [16,18,19].…”

Section: Snps In the Catalase Gene Are Associated With The Risk Of Cr...mentioning

confidence: 99%

The Genetic Diversity and Dysfunctionality of Catalase Associated with a Worse Outcome in Crohn’s Disease

Iborra

Moret

Busó

et al. 2022

IJMS

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Chronic gut inflammation in Crohn’s disease (CD) is associated with an increase in oxidative stress and an imbalance of antioxidant enzymes. We have previously shown that catalase (CAT) activity is permanently inhibited by CD. The purpose of the study was to determine whether there is any relationship between the single nucleotide polymorphisms (SNPs) in the CAT enzyme and the potential risk of CD associated with high levels of oxidative stress. Additionally, we used protein and regulation analyses to determine what causes long-term CAT inhibition in peripheral white mononuclear cells (PWMCs) in both active and inactive CD. We first used a retrospective cohort of 598 patients with CD and 625 age-matched healthy controls (ENEIDA registry) for the genotype analysis. A second human cohort was used to study the functional and regulatory mechanisms of CAT in CD. We isolated PWMCs from CD patients at the onset of the disease (naïve CD patients). In the genotype-association SNP analysis, the CAT SNPs rs1001179, rs475043, and rs525938 showed a significant association with CD (p < 0.001). Smoking CD patients with the CAT SNP rs475043 A/G genotype had significantly more often penetrating disease (p = 0.009). The gene expression and protein levels of CAT were permanently reduced in the active and inactive CD patients. The inhibition of CAT activity in the PWMCs of the CD patients was related to a low concentration of CAT protein caused by the downregulation of CAT-gene transcription. Our study suggests an association between CAT SNPs and the risk of CD that may explain permanent CAT inhibition in CD patients together with low CAT gene and protein expression.

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Association between SOD1, CAT, GSHPX1 polymorphisms and the risk of inflammatory bowel disease in the Polish population

Cited by 16 publications

References 25 publications

Changes in the Activity and Concentration of Superoxide Dismutase Isoenzymes (Cu/Zn SOD, MnSOD) in the Blood of Healthy Subjects and Patients with Acute Pancreatitis

Changes in the Activity and Concentration of Superoxide Dismutase Isoenzymes (Cu/Zn SOD, MnSOD) in the Blood of Healthy Subjects and Patients with Acute Pancreatitis

Association of C-262 polymorphism in catalase gene with Rheumatoid Arthritis

The Genetic Diversity and Dysfunctionality of Catalase Associated with a Worse Outcome in Crohn’s Disease

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